Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDKL5 gene for Early infantile epileptic encephalopathy type 2

PreTest Information

Clinical History of Patient who is going for CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CDKL5 Gene Early infantile epileptic encephalopathy type 2

Detail Description

CDKL5 Gene Early Infantile Epileptic Encephalopathy Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

CDKL5 gene mutations are the cause of early infantile epileptic encephalopathy type 2 (EIEE2). EIEE2 is a rare genetic disorder that affects the brain and nervous system. It is characterized by seizures that begin in the first few months of life, developmental delay, and intellectual disability. CDKL5 is an X-linked gene, which means that it is located on the X chromosome. This disorder affects females more severely than males because females have two X chromosomes and males only have one.

Symptoms of EIEE2

The symptoms of EIEE2 can vary from person to person, but they generally include:

• Seizures that begin in the first few months of life
• Developmental delay
• Intellectual disability
• Loss of motor skills
• Speech and language delay
• Difficulty sleeping

Diagnosis of EIEE2

Diagnosis of EIEE2 involves genetic testing. The most common test used to diagnose EIEE2 is Next-Generation Sequencing (NGS) Genetic DNA Test. This test identifies mutations in the CDKL5 gene. The test is performed on a blood sample and the results are usually available within a few weeks.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Test for CDKL5 gene mutations is INR:20000. The cost may vary depending on the laboratory and the location.

Conclusion

EIEE2 is a rare genetic disorder that affects the brain and nervous system. The disorder is caused by mutations in the CDKL5 gene. Early diagnosis and treatment are crucial for managing the symptoms of this disorder. If you suspect that your child may have EIEE2, it is important to consult a genetic counselor and get genetic testing done. NGS Genetic DNA Test is a reliable and cost-effective test for diagnosing CDKL5 gene mutations.